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KCNH2 c.1888G>C ;(p.V630L)
Variant ID: 7-150648593-C-G
NM_000238.3(
KCNH2
):c.1888G>C;(p.V630L)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022
Variant appearance in text: KCNH2: V630L
PubMed Link:
36339618
Variant Present in the following documents:
fphar-13-1010119.pdf
View BVdb publication page
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: V630L
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: KCNH2: 1888G>C; rs199472958
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: LQT2: V630L
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: KCNH2: V630L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015
Variant appearance in text: KCNH2: 1888G>C
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08
Variant appearance in text: LQT2: V630L
PubMed Link:
20670193
Variant Present in the following documents:
Main text
View BVdb publication page
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Human Mutation
Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q
Publication Date: 2002-12
Variant appearance in text: KCNH2: V630L
PubMed Link:
12442276
Variant Present in the following documents:
Main text
View BVdb publication page